SNP information rs11571747

Research and publications:

  1990134   A rapid method for identification of Mycobacterium species by polyacrylamide gel electrophoresis of soluble cell proteins.

  10699917   Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure.

  10717622   Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases.

  10923033   The breast cancer information core: database design, structure, and scope.

  12474142   Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene.

  15026808   BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

  16489001   Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

  17341484   Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility.

  17899372   Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

  18312450   Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families.

  18559594   BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark.

  18607349   Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.

  18824701   Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.

  19043619   Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

  20104584   Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

  21520273   Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.

  21702907   A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

  21952622   BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients.

  21990134   A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

  22703879   Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

  23108138   A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

  24033266   A systematic approach to assessing the clinical significance of genetic variants.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  28591191   Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.